Canonical Allele Identifier: CA902243

Gene: RPE65

Linked Data

• ClinVar Variation Id: 298019
• ClinVar RCV Id: RCV000287911 ; RCV000352172 ; RCV001196851 ; RCV000923552
• dbSNP Id: rs548537552
• ExAC: 1:68897144 A / G
• gnomAD v2: 1-68897144-A-G
• gnomAD v3: 1-68431461-A-G
• gnomAD v4: 1-68431461-A-G
• MyVariant Identifiers: chr1:g.68897144A>G (hg19) ; chr1:g.68431461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431461A>G , CM000663.2:g.68431461A>G	GRCh38
NC_000001.10:g.68897144A>G , CM000663.1:g.68897144A>G	GRCh37
NC_000001.9:g.68669732A>G	NCBI36
NG_008472.1:g.23499T>C
NG_008472.2:g.23499T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1243+10T>C MANE Select	ENSP00000262340.5:n.1243+10T>C
ENST00000262340.5:c.1243+10T>C	ENSP00000262340.5:n.1243+10T>C
NM_000329.2:c.1243+10T>C	NP_000320.1:n.1243+10T>C
XM_017002027.1:c.967+10T>C	XP_016857516.1:n.967+10T>C
NM_000329.3:c.1243+10T>C MANE Select	NP_000320.1:n.1243+10T>C